ID AG08166 AC CVCL_X848 DR CLO; CLO_0033701 DR Coriell; AG08166 DR Wikidata; Q54741712 RX CelloPub=CLPUB00597; RX PubMed=8247227; CC Part of: Canadian Alzheimer disease kindred subcollection. CC Population: Caucasian. CC Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Unspecified (from inference of kindred). CC Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. CC Cell type: Fibroblast of skin; CL=CL_0002620. DI NCIt; C123412; Alzheimer's disease 3 DI ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_X847 ! AG08165 SX Female AG 27Y4M CA Finite cell line DT Created: 05-09-14; Last updated: 19-12-24; Version: 13 // RX CelloPub=CLPUB00597; RG National Institute on Aging; RT "1994 catalog of cell lines. NIA Aging Cell Repository."; RL (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994). // RX PubMed=8247227; DOI=10.1016/0197-4580(93)90103-i; RA McCoy K.R., Mullins R.D., Newcomb T.G., Ng G.M., Pavlinkova G., RA Polinsky R.J., Nee L.E., Sisken J.E.; RT "Serum- and bradykinin-induced calcium transients in familial RT Alzheimer's fibroblasts."; RL Neurobiol. Aging 14:447-455(1993). //